iPSC-Based Modeling of SCA12 for Targeted Therapeutic Screening
Objective: 1. To identify a cohort of genetically confirmed SCA12 patients of Indian origin, derive iPSCs, progenitor cells and neurons from peripheral blood samples2. To…Spinocerebellar Ataxia 34: ELOVL4 Recurrent Mutation in a Different Family
Objective: We present a rare case of Spinocerebellar Ataxia 34 (SCA 34) in a Vietnamese patient. Background: SCA 34 is a subtype of Spinocerebellar Ataxia…Spectrum of polysomnographic abnormalities in a cohort of sporadic late onset ataxia patients
Objective: To evaluate the occurrence of rapid eye movement behavioral disorder (RBD) and associated polysomnographic abnormalities in patients of sporadic adult onset ataxia Background: Sporadic…Motor Onset of Parkinson’s disease: the proximal limbs are first
Objective: To determine if proximal body parts are more affected than distal body parts at the clinical onset of Parkinson’s disease (PD). Background: Motor features…Comparative Analysis of GAITRite and Moticon Digital Insoles for Gait Assessment in Parkinson’s Disease Patients Before and After Levodopa Administration
Objective: Parkinson’s disease (PD) is characterized by gait impairments, impacting patient mobility and quality of life. This study compares a reference gait measurement system, GAITRite (GR) against digital…Identification of Fall Risk in Patients with Parkinson’s Disease Through Telemonitoring
Objective: This work presents an analysis of real-world, device-reported outcomes from patients with Parkinson’s disease (PD) in Greece. A total of 82 patients were included…The study of evaluating the impact of simulating indoor environments using virtual reality on gait in Parkinson’s Disease
Objective: This study aims to quantitatively assess how indoor environments affect on gait disturbances in PD patients using virtual reality (VR). Background: Patients with Parkinson's…The impact of Deep Brain Stimulation for Parkinson’s disease on Quality of Life
Objective: To evaluate the long-term outcomes in Quality of Life (QoL) for patients with Parkinson’s disease (PwP) enrolled in a global, real-world device registry for…Microstructural Changes in the Inferior Tuberal Hypothalamus Correlate with Daytime Sleepiness in Lewy Body Disease
Objective: Identify neuroimaging correlates of excessive daytime sleepiness in Lewy body disorders using diffusion MRI. Background: Excessive daytime sleepiness (EDS) is a common and disabling…Characterisation of the pharmacokinetic profile of amantadine in the common marmoset
Objective: To determine the pharmacokinetic (PK) profile of amantadine in the common marmoset (Callithrix jacchus). Background: Amantadine is currently approved for the treatment of L-3,4-dihydroxyphenylalanine…
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